In a large pedigree, Awadalla and coworkers found a missense mutation in the TMEM98 (A193P) that could be associated with autosomal-dominant nanophthalmos .
There are reports of its association with nanophthalmos and posterior microphthalmos cases [21, 50, 69] although its physiologic and pathogenic mechanisms remain to be fully determined .
Furthermore, some recent reports showed association of mutation in CRB1 with nanophthalmos and retinitis pigmentosa [74, 75].
However, it has been reported to be in association with other widespread ocular abnormalities, such as autosomal-dominant vitreoretinochoroidopathy (ADVIRC) and autosomal-recessive bestrophinopathy (ARB), which are both associated with nanophthalmos .
There are reports of association of this condition with nanophthalmos and a higher incidence of angle-closure glaucoma [79, 80].
Other Loci for Nanophthalmos. The autosomaldominant nanophthalmos NNO1 (OMIM 600165) is caused by a defect on chromosome 11, between D11S905 and D11S987.
Furthermore, substantial new discoveries in the genetics of nanophthalmos have led to the discovery of many new genes and pathways in the pathogenesis of this condition.
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